Building consensus on Leber Hereditary Optic Neuropathy treatment

What is the issue?

Leber Hereditary Optic Neuropathy (LHON) is a rare inherited condition that causes vision loss. Diagnosis can be challenging due to symptom overlap with other diseases and challenges to timely testing. Currently, there is no cure, and treatment options are limited. In 2017, an expert group developed guidelines for LHON diagnosis, treatment, and family screening. Given advances in research and treatment since then, updated international guidance is needed to support effective clinical and therapeutic management of patients with LHON and to inform and promote evidence-based practice. Establishing clear, evidence-based consensus is essential to improving outcomes and high-quality diagnosis, treatment and disease management approaches for patients.

How are we helping?

RAND Europe is leading a multi-phase project to examine and facilitate consensus on recommendations for the clinical and therapeutic management of LHON. We are working internationally with key clinical and research experts through a project steering committee led by Professor Patrick Yu Wai Man from Cambridge University and Cactus Life Sciences (a medical communications agency) experts.

The project involves:

• A rapid evidence assessment to establish the current evidence base for LHON management, led by Cactus Life Sciences.
• A Delphi-inspired methodology, including surveys and workshops to systematically explore and build consensus among experts.
• Publication of the final recommendations to support international dissemination of insights on clinical and therapeutic management as it relates to disease classification, diagnosis, prognosis and counselling and management of affected individuals.

Through this work, we aim to provide the LHON clinical and patient community with clear, agreed-upon guidance that will improve care and patient outcomes.

The project is supported by funding from Chiesi and GenSight, and delivered fully independently by the research team.